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Article

A cysteine-containing truncated apo A-I variant associated with HDL deficiency.

Arteriosclerosis, thrombosis, and vascular biology - 1 Dec 1996

Moriyama K, Sasaki J, Takada Y, Matsunaga A, Fukui J, Albers J J, Arakawa K

Abstract excerpt

We identified a 50-year-old Japanese woman with a novel mutation in the apolipoprotein (apo) A-I gene causing high-density lipoprotein (HDL) deficiency. The patient had extremely low HDL cholesterol and apo A-I levels (0.14 mmol/L and 0.8 mg/dL, respectively) but no evidence of coronary heart disease. However, she had bilateral xanthomas of the Achilles tendon, elbow, and knee joint as well as corneal opacities....

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 8977444
DOI: 10.1161/01.atv.16.12.1416

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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